107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital arteriovenous malformation of gastrointestinal tract (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
4q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Atresia of lower vagina	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of palatine bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Encephalocystocele (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
18q partial monosomy syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Parieto-occipital craniosynostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Truncal valve abnormality	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified heart anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital uraemia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
XXXXY syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Failure of soft tissue differentiation of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nemaline myopathy, late onset type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomaly of skull or face bone NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Localised congenital skull defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of arch of sacral vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Primordial cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
[X]Other reduction deformities of brain	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Balanced rearrangement and structural marker, unspecified	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomaly of bronchus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of lumbar vertebra	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Meromicrosomia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Incomplete ossification of calcaneus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital overgrowth of proximal lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of arterial valves	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nemaline myopathy, early onset type	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of nasal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Intrauterine amputation of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of eye muscle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Subaortic infundibulum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nodular heterotopia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Sex phenotype-karyotype dissociation syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Lack of ossification of interparietal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fragile X chromosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Duplication of humerus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Truncal valve prolapse	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital conduction defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Other specified correction of minor congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Absent right sided atrioventricular connection	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ear, face and neck congenital anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Buccal bifurcation cyst	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other anomaly of larynx, trachea or bronchus NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of oral cavity	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ebstein-like downward displacement of mitral valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other rib or sternum anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Linear/nevoid/zosteriform Darier's disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Hypertrophic Darier's disease (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Chromosome inversion in normal individual	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Persistent primary vitreous (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of lens	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
15q partial trisomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital intrahepatic portal-systemic shunt	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
manus plana	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of the thymus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Type 1 lissencephaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Atresia of heart valve NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Correction of clinodactyly	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of chromosome pair 3	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Microgenia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Bilateral muscular infundibula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital vitreous opacity	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of abdominal wall	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Multiple anterior segment anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie congénitale du poumon	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Optic disc structural anomaly (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of pulmonary artery	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other specified other anomalies of muscle, tendon and fascia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Straight back syndrome (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
True generalized microdontia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other pulmonary valve anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
21q partial trisomy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of muscle AND/OR tendon	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other lung anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
21q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Abnormal fetus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of diaphragm	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Supernumerary heart valve cusps NEC	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of pituitary gland NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital urethral valve	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital partial portal-systemic shunt	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital deformity of shoulder or upper arm	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital myopathy with abnormal subcellular organelles	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of ureter	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Double inlet ventricle	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital malformations of the musculoskeletal system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital deformities of chest	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Thoracoschisis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dysgenesis of lacrimal punctum (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital stenosis of larynx, trachea and bronchus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other lung anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Endocrine gland anomaly NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Other reduction deformity of brain NOS	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Unspecified spina bifida without hydrocephalus - closed	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pulmonary tuberous sclerosis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
pancréas annulaire (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Specified anomalies of sclera	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
16q partial monosomy syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Other lung anomalies	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of metacarpal bone	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of respiratory system	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

Start Previous Page 83 of 124 Next End

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core